You are involved in a research team working on how the mutation affects the func

Question

You are involved in a research team working on how the mutation affects the function of the genome. The research group is now focusing on how the mutations on the upstream of the open reading frame affect on the expression of a specific gene. Generate a hypothesis on the potential effect of mutations on how the mutation on the upstream of a gene can alter the gene expression. Design experimental strategy of mutational analysis and describe any anticipated result (predicted outcome from your experimental design).

Explanation / Answer

Post-transcriptional regulation is controlled by short sequence elements in the UTRs (5 untranslated region) of mRNA. One such 5 UTR element is the upstream ORF (uORF) which controls the expression levels and in some cases start codon AUG is associated with it. Mutation in such regions can result in reduced expression, altered or no expression of a protein.

1) Hypothesis : Mutation in uORF can significantly affect the protein expression levels which can be reduced expression, altered or no expression of a protein.

2) Mutation can create uORFs, disrupt uORFs or modify the encoded uORF peptide. Some of diseases caused by mutation in uORF are Beta Thalassaemia, acute myeloid leukemia, bipolar affective disorder, schizophrenia predisposition, thrombocythemia, congenital hyperinsulinism, familial hypercholesterolemia, hereditary pancreatitis and melonama predisposition.

Mutation analysis can be done to find the control of protein expression by uORF. A simple deletion mutation in uORF can be done to study the protein expression level.

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